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Journal Abstract Search

710 related items for PubMed ID: 15857931

  • 1. Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
    Kärppä M, Herva R, Moslemi AR, Oldfors A, Kakko S, Majamaa K.
    Brain; 2005 Aug; 128(Pt 8):1861-9. PubMed ID: 15857931
    [Abstract] [Full Text] [Related]

  • 2. Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.
    Kärppä M, Mahjneh I, Karttunen A, Tolonen U, Majamaa K.
    J Neurol; 2004 May; 251(5):556-63. PubMed ID: 15164188
    [Abstract] [Full Text] [Related]

  • 3. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
    Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A.
    Brain; 2006 May; 129(Pt 5):1249-59. PubMed ID: 16537564
    [Abstract] [Full Text] [Related]

  • 4. Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA.
    Kärppä M, Syrjälä P, Tolonen U, Majamaa K.
    J Neurol; 2003 Feb; 250(2):216-21. PubMed ID: 12574954
    [Abstract] [Full Text] [Related]

  • 5. Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.
    Uusimaa J, Moilanen JS, Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen T, Mäki-Torkko E, Rantala H, Majamaa K.
    Ann Neurol; 2007 Sep; 62(3):278-87. PubMed ID: 17823937
    [Abstract] [Full Text] [Related]

  • 6. Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA.
    Latvala T, Mustonen E, Uusitalo R, Majamaa K.
    Graefes Arch Clin Exp Ophthalmol; 2002 Oct; 240(10):795-801. PubMed ID: 12397426
    [Abstract] [Full Text] [Related]

  • 7. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
    Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S.
    J Neurol Sci; 2005 Jan 15; 228(1):93-7. PubMed ID: 15607216
    [Abstract] [Full Text] [Related]

  • 8. Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation.
    Yuan JH, Sakiyama Y, Higuchi I, Inamori Y, Higuchi Y, Hashiguchi A, Higashi K, Yoshimura A, Takashima H.
    J Clin Pathol; 2013 Aug 15; 66(8):659-64. PubMed ID: 23559353
    [Abstract] [Full Text] [Related]

  • 9. Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
    Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP.
    Ann Neurol; 2008 Apr 15; 63(4):473-81. PubMed ID: 18306232
    [Abstract] [Full Text] [Related]

  • 10. Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.
    Hirata K, Nakagawa M, Higuchi I, Hashimoto K, Hanada K, Takahashi K, Niiyama T, Izumi K, Sakoda S, Yamada H, Osame M.
    J Hum Genet; 1999 Apr 15; 44(3):210-4. PubMed ID: 10319590
    [Abstract] [Full Text] [Related]

  • 11. Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?
    Manfredi G, Vu T, Bonilla E, Schon EA, DiMauro S, Arnaudo E, Zhang L, Rowland LP, Hirano M.
    Ann Neurol; 1997 Aug 15; 42(2):180-8. PubMed ID: 9266727
    [Abstract] [Full Text] [Related]

  • 12. Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
    De Paepe B, Smet J, Lammens M, Seneca S, Martin JJ, De Bleecker J, De Meirleir L, Lissens W, Van Coster R.
    J Clin Pathol; 2009 Feb 15; 62(2):172-6. PubMed ID: 19181635
    [Abstract] [Full Text] [Related]

  • 13. [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].
    Stratilová L, Zeman J, Hansíková H, Houstĕk J, Hermanská J, Dudková Z, Konrádová V, Hůlková H, Elleder M.
    Cas Lek Cesk; 1998 Jul 13; 137(14):430-3. PubMed ID: 9748738
    [Abstract] [Full Text] [Related]

  • 14. Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.
    Marotta R, Reardon K, McKelvie PA, Chiotis M, Chin J, Cook M, Collins SJ.
    J Clin Neurosci; 2009 Sep 13; 16(9):1223-5. PubMed ID: 19502062
    [Abstract] [Full Text] [Related]

  • 15. Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy.
    Jeppesen TD, Schwartz M, Olsen DB, Vissing J.
    Ann Neurol; 2003 Jul 13; 54(1):86-92. PubMed ID: 12838523
    [Abstract] [Full Text] [Related]

  • 16. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
    Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A.
    Brain; 2008 Nov 13; 131(Pt 11):2841-50. PubMed ID: 18819985
    [Abstract] [Full Text] [Related]

  • 17. Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes.
    Kawakami Y, Sakuta R, Hashimoto K, Fujino O, Fujita T, Hida M, Horai S, Goto Y, Nonaka I.
    Ann Neurol; 1994 Mar 13; 35(3):370-3. PubMed ID: 8122892
    [Abstract] [Full Text] [Related]

  • 18. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S.
    Arch Neurol; 2003 Jul 13; 60(7):1007-9. PubMed ID: 12873860
    [Abstract] [Full Text] [Related]

  • 19. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.
    Darin N, Kollberg G, Moslemi AR, Tulinius M, Holme E, Grönlund MA, Andersson S, Oldfors A.
    Neuromuscul Disord; 2006 Aug 13; 16(8):504-6. PubMed ID: 16806928
    [Abstract] [Full Text] [Related]

  • 20. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.
    Jeppesen TD, Schwartz M, Olsen DB, Wibrand F, Krag T, Dunø M, Hauerslev S, Vissing J.
    Brain; 2006 Dec 13; 129(Pt 12):3402-12. PubMed ID: 16815877
    [Abstract] [Full Text] [Related]

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